Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Vision and Erg[original query] |
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| Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Investigative ophthalmology & visual science 2012 Jul 53 (8): 4409-15. Testa Francesco, Rossi Settimio, Sodi Andrea, Passerini Ilaria, Di Iorio Valentina, Della Corte Michele, Banfi Sandro, Surace Enrico Maria, Menchini Ugo, Auricchio Alberto, Simonelli Frances |
| Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
| Mitochondrial retinal dystrophy associated with the m.3243A>G mutation. Ophthalmology 2013 Dec 120 (12): 2684-96. de Laat Paul, Smeitink Jan A M, Janssen Mirian C H, Keunen Jan E E, Boon Camiel J |
| Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Investigative ophthalmology & visual science 2016 Sep 57 (11): 4668-78. Fakin Ana, Robson Anthony G, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Pei-Wen Chiang John, E Holder Graham, Webster Andrew |
| High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative ophthalmology & visual science 2017 9 58 (11): 4457-4466. Bellingrath Julia-Sophia, Ochakovski G Alex, Seitz Immanuel P, Kohl Susanne, Zrenner Eberhart, Hanig Nicola, Prokisch Holger, Weber Bernhard H, Downes Susan M, Ramsden Simon, MacLaren Robert E, Fischer M Domin |
| Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. International journal of molecular sciences 2018 8 19 (8): . Nassisi Marco, Mohand-Saïd Saddek, Dhaenens Claire-Marie, Boyard Fiona, Démontant Vanessa, Andrieu Camille, Antonio Aline, Condroyer Christel, Foussard Marine, Méjécase Cécile, Eandi Chiara Maria, Sahel José-Alain, Zeitz Christina, Audo Isabel |
| Retinal dystrophies with bull's-eye maculopathy along with negative ERGs. Documenta ophthalmologica. Advances in ophthalmology 2019 4 139 (1): 45-57. Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner |
| Sildenafil Administration in Dogs Heterozygous for a Functional Null Mutation in Pde6a: Suppressed Rod-Mediated ERG Responses and Apparent Retinal Outer Nuclear Layer Thinning. Advances in experimental medicine and biology 2019 12 1185 371-376. Pierce Kenneth E, Curran Paul G, Zelinka Christopher P, Fischer Andy J, Petersen-Jones Simon M, Bartoe Joshua |
| Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse. Equine veterinary journal 2020 7 53 (2): 316-323. Hack Yael L, Crabtree Elizabeth E, Avila Felipe, Sutton Roger B, Grahn Robert, Oh Annie, Gilger Brian, Bellone Rebecca |
| Analysis of retinal structure and function in cone dystrophy with supernormal rod response. Documenta ophthalmologica. Advances in ophthalmology 2020 1 141 (1): 23-32. Abdelkader Ehab, Yasir Z H, Khan Abdullah M, Raddadi Osama, Khandekar Rajiv, Alateeq Nayef, Nowilaty Sawsan, AlShahrani Najah, Schatz Patr |
| Altered visual processing in the mdx52 mouse model of Duchenne muscular dystrophy. Neurobiology of disease 2021 2 152 105288. Barboni Mirella Telles Salgueiro, Liber André Maurício Passos, Joachimsthaler Anneka, Saoudi Amel, Goyenvalle Aurélie, Rendon Alvaro, Roger Jérome E, Ventura Dora Fix, Kremers Jan, Vaillend Cyril |
| A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes 2021 1 12 (2): . Mahmood Usman, Méjécase Cécile, Ali Syed M A, Moosajee Mariya, Kozak Ig |
| A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy. Case reports in genetics 2022 4 2022 1183772. You Hyelin, Sierpina Dav |
| Mutations of TOPORS identified in families with retinitis pigmentosa. Ophthalmic genetics 2022 3 43 (3): 371-377. He Kaiwen, Zhou Yunyu, Li Ningdo |
| RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. Investigative ophthalmology & visual science 2022 2 63 (2): 13. Testa Francesco, Murro Vittoria, Signorini Sabrina, Colombo Leonardo, Iarossi Giancarlo, Parmeggiani Francesco, Falsini Benedetto, Salvetti Anna Paola, Brunetti-Pierri Raffaella, Aprile Giorgia, Bertone Chiara, Suppiej Agnese, Romano Francesco, Karali Marianthi, Donati Simone, Melillo Paolo, Sodi Andrea, Quaranta Luciano, Rossetti Luca, Buzzonetti Luca, Chizzolini Marzio, Rizzo Stanislao, Staurenghi Giovanni, Banfi Sandro, Azzolini Claudio, Simonelli Frances |
| A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. Molecular vision 2022 11 28 300-316. Kjellström Ulrika, Andréasson St |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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